rs2228479

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs2228479(A;A)

Make rs2228479(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

89919532

Gene

MC1R

is a	snp
is	mentioned by
dbSNP	rs2228479
dbSNP (classic)	rs2228479
ClinGen	rs2228479
ebi	rs2228479
HLI	rs2228479
Exac	rs2228479
Gnomad	rs2228479
Varsome	rs2228479
LitVar	rs2228479
Map	rs2228479
PheGenI	rs2228479
Biobank	rs2228479
1000 genomes	rs2228479
hgdp	rs2228479
ensembl	rs2228479
geneview	rs2228479
scholar	rs2228479
google	rs2228479
pharmgkb	rs2228479
gwascentral	rs2228479
openSNP	rs2228479
23andMe	rs2228479
SNPshot	rs2228479
SNPdbe	rs2228479
MSV3d	rs2228479
GWAS Ctlg	rs2228479

GMAF

0.09183

Max Magnitude

0

?

(A;A) (A;G) (G;G)

28

rs2228479, known as Val92Met or V92M, is one of several SNPs in the MC1R gene commonly associated with red (or blond) hair and poor tanning, but note its high presence in one Asian population [PMID 7581459, PMID 16463023]

The risk allele is rs2228479(A), compared with the wild-type rs2228479(G) allele.

See also OMIM 155555.0002

OMIM	155555
Desc
Variant	0002
Related	also

ClinVar
Risk	rs2228479(A;A) rs2228479(C;C)
Alt	rs2228479(A;A) rs2228479(C;C)
Reference	Rs2228479(G;G)
Significance	Other
Disease	Skin/hair/eye pigmentation 2 Skin/hair/eye pigmentation 2 not specified Malignant Melanoma Susceptibility
Variation	info
Gene	MC1R
CLNDBN	Skin/hair/eye pigmentation 2, red hair/fair skin Skin/hair/eye pigmentation 2, blond hair/fair skin not specified Malignant Melanoma Susceptibility
Reversed	0
HGVS	NC_000016.9:g.89985940G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015378.28, RCV000015379.28, RCV000247471.1, RCV000278283.1,

[PMID 17999355 ] A genomewide association study of skin pigmentation in a South Asian population.

[PMID 20042077 ] Genetic determinants of hair and eye colours in the Scottish and Danish populations.

[PMID 20670983] The Multiple Sclerosis Severity Score: associations with MC1R single nucleotide polymorphisms and host response to ultraviolet radiation.

[PMID 21052032 ] Sequence polymorphisms of MC1R gene and their association with depression and antidepressant response.

[PMID 23744330] [Association study of MC1R gene polymorphisms with freckles in Chinese Han population from Chengdu]